A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559452



Internal ID16000175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:79774880..79813720hg38UCSC Ensembl
Innerchr12:80168660..80207500hg19UCSC Ensembl
Innerchr12:78692791..78731631hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3838841
hg1938841
hg1838841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798903
Samples
Known GenesPPP1R12A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559452
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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